ClinVar Miner

List of variants in gene ASPM studied for Inborn genetic diseases

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Gene type:
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Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys) rs201066146 0.00031
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695 0.00026
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu) rs142378871 0.00023
NM_018136.5(ASPM):c.523G>A (p.Val175Ile) rs201934616 0.00021
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) rs147466865 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr) rs200856894 0.00021
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser) rs147830520 0.00020
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His) rs143092798 0.00016
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00016
NM_018136.5(ASPM):c.6514G>A (p.Val2172Ile) rs370590014 0.00016
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) rs201679731 0.00011
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) rs147839989 0.00010
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00009
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val) rs150906798 0.00009
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val) rs767859450 0.00008
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe) rs371321801 0.00008
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp) rs184969664 0.00007
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln) rs200848981 0.00007
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu) rs753961004 0.00007
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) rs587783218 0.00006
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr) rs149162314 0.00006
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys) rs142865061 0.00005
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln) rs777169562 0.00005
NM_018136.5(ASPM):c.1474A>G (p.Ile492Val) rs149075351 0.00004
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys) rs368020945 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_018136.5(ASPM):c.9152G>A (p.Arg3051Gln) rs368000478 0.00004
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.3390+3A>G rs377110373 0.00003
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe) rs371020085 0.00003
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp) rs142024644 0.00003
NM_018136.5(ASPM):c.1871T>C (p.Ile624Thr) rs1057523023 0.00002
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg) rs763381773 0.00002
NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp) rs371997190 0.00002
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly) rs765139526 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.10217C>G (p.Thr3406Arg) rs1194792753 0.00001
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr) rs757587073 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly) rs769921325 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn) rs1338772800 0.00001
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala) rs769813952 0.00001
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu) rs774901339 0.00001
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln) rs751584273 0.00001
NM_018136.5(ASPM):c.898C>G (p.Pro300Ala) rs200453432 0.00001
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
NM_018136.5(ASPM):c.1022A>G (p.Asp341Gly)
NM_018136.5(ASPM):c.10284C>G (p.Ser3428Arg)
NM_018136.5(ASPM):c.10288C>T (p.Pro3430Ser)
NM_018136.5(ASPM):c.1028T>G (p.Phe343Cys)
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
NM_018136.5(ASPM):c.1130G>A (p.Gly377Glu)
NM_018136.5(ASPM):c.1157C>T (p.Ser386Leu)
NM_018136.5(ASPM):c.1181A>C (p.Asn394Thr)
NM_018136.5(ASPM):c.1213T>C (p.Cys405Arg)
NM_018136.5(ASPM):c.1386C>G (p.Tyr462Ter) rs1553227742
NM_018136.5(ASPM):c.1500G>T (p.Arg500Ser)
NM_018136.5(ASPM):c.1614AGA[1] (p.Glu539del) rs748154747
NM_018136.5(ASPM):c.1728G>C (p.Lys576Asn)
NM_018136.5(ASPM):c.1742T>G (p.Met581Arg)
NM_018136.5(ASPM):c.1786G>T (p.Val596Leu)
NM_018136.5(ASPM):c.1789C>G (p.Arg597Gly)
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del) rs750297982
NM_018136.5(ASPM):c.1880G>T (p.Arg627Leu)
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1951A>G (p.Lys651Glu)
NM_018136.5(ASPM):c.2283G>C (p.Arg761Ser)
NM_018136.5(ASPM):c.2378G>A (p.Arg793Gln)
NM_018136.5(ASPM):c.2503C>T (p.Leu835Phe)
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
NM_018136.5(ASPM):c.2667G>T (p.Lys889Asn)
NM_018136.5(ASPM):c.272T>C (p.Val91Ala)
NM_018136.5(ASPM):c.2861T>G (p.Val954Gly)
NM_018136.5(ASPM):c.2864A>G (p.Gln955Arg)
NM_018136.5(ASPM):c.2865G>C (p.Gln955His)
NM_018136.5(ASPM):c.3151A>G (p.Ile1051Val)
NM_018136.5(ASPM):c.3251C>T (p.Ser1084Phe)
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3515C>T (p.Thr1172Met)
NM_018136.5(ASPM):c.3554C>G (p.Ser1185Cys)
NM_018136.5(ASPM):c.3737A>G (p.Glu1246Gly)
NM_018136.5(ASPM):c.3802A>G (p.Arg1268Gly)
NM_018136.5(ASPM):c.3821A>G (p.Gln1274Arg)
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4014A>T (p.Leu1338Phe)
NM_018136.5(ASPM):c.4065+5A>C
NM_018136.5(ASPM):c.4085C>A (p.Ser1362Tyr)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4117del (p.Tyr1373fs)
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
NM_018136.5(ASPM):c.4129C>G (p.Leu1377Val)
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
NM_018136.5(ASPM):c.4209T>G (p.His1403Gln)
NM_018136.5(ASPM):c.4276A>G (p.Ile1426Val)
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) rs1657362655
NM_018136.5(ASPM):c.4343T>C (p.Ile1448Thr)
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4451A>G (p.Tyr1484Cys)
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.4624A>G (p.Ile1542Val)
NM_018136.5(ASPM):c.4700A>G (p.Gln1567Arg)
NM_018136.5(ASPM):c.4808AGA[1] (p.Lys1604del)
NM_018136.5(ASPM):c.4850G>A (p.Arg1617Gln)
NM_018136.5(ASPM):c.4932A>C (p.Arg1644Ser)
NM_018136.5(ASPM):c.5062A>G (p.Thr1688Ala)
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5360C>A (p.Ala1787Glu)
NM_018136.5(ASPM):c.5405A>T (p.Lys1802Ile)
NM_018136.5(ASPM):c.5453G>T (p.Arg1818Leu)
NM_018136.5(ASPM):c.5479G>A (p.Ala1827Thr) rs1657293631
NM_018136.5(ASPM):c.5497T>A (p.Ser1833Thr)
NM_018136.5(ASPM):c.5620A>G (p.Thr1874Ala)
NM_018136.5(ASPM):c.5699C>A (p.Ala1900Asp)
NM_018136.5(ASPM):c.5710A>G (p.Ile1904Val)
NM_018136.5(ASPM):c.5720C>T (p.Ala1907Val)
NM_018136.5(ASPM):c.5800T>C (p.Trp1934Arg)
NM_018136.5(ASPM):c.5842C>G (p.Arg1948Gly)
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.5873G>C (p.Trp1958Ser)
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.5899C>T (p.Leu1967Phe)
NM_018136.5(ASPM):c.5929A>G (p.Ile1977Val)
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
NM_018136.5(ASPM):c.5993T>C (p.Leu1998Pro)
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
NM_018136.5(ASPM):c.6055A>G (p.Lys2019Glu)
NM_018136.5(ASPM):c.6152del (p.Gln2051fs) rs1189399471
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
NM_018136.5(ASPM):c.64G>C (p.Ala22Pro)
NM_018136.5(ASPM):c.6586A>G (p.Ile2196Val)
NM_018136.5(ASPM):c.6788A>G (p.His2263Arg)
NM_018136.5(ASPM):c.6800C>T (p.Thr2267Ile)
NM_018136.5(ASPM):c.6841_6844del (p.Arg2281fs)
NM_018136.5(ASPM):c.685A>G (p.Asn229Asp)
NM_018136.5(ASPM):c.700G>A (p.Ala234Thr)
NM_018136.5(ASPM):c.7054A>G (p.Met2352Val)
NM_018136.5(ASPM):c.70C>G (p.Leu24Val)
NM_018136.5(ASPM):c.719C>T (p.Ser240Phe)
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn) rs376686304
NM_018136.5(ASPM):c.7268T>A (p.Val2423Glu)
NM_018136.5(ASPM):c.7355A>G (p.Tyr2452Cys)
NM_018136.5(ASPM):c.7367A>G (p.His2456Arg)
NM_018136.5(ASPM):c.73C>G (p.Arg25Gly)
NM_018136.5(ASPM):c.7445G>A (p.Arg2482Lys)
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
NM_018136.5(ASPM):c.7538A>G (p.His2513Arg)
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer) rs765530357
NM_018136.5(ASPM):c.7675G>A (p.Val2559Ile)
NM_018136.5(ASPM):c.7696A>G (p.Met2566Val)
NM_018136.5(ASPM):c.76G>A (p.Gly26Ser)
NM_018136.5(ASPM):c.7735G>A (p.Ala2579Thr)
NM_018136.5(ASPM):c.7778A>T (p.Lys2593Ile)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7826A>G (p.Gln2609Arg)
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
NM_018136.5(ASPM):c.7892T>C (p.Ile2631Thr)
NM_018136.5(ASPM):c.7918A>G (p.Ile2640Val)
NM_018136.5(ASPM):c.796G>A (p.Val266Ile)
NM_018136.5(ASPM):c.8003C>T (p.Ala2668Val)
NM_018136.5(ASPM):c.8072C>T (p.Ala2691Val)
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8182G>A (p.Val2728Ile)
NM_018136.5(ASPM):c.8231C>T (p.Thr2744Ile)
NM_018136.5(ASPM):c.82G>C (p.Ala28Pro)
NM_018136.5(ASPM):c.8372G>C (p.Gly2791Ala)
NM_018136.5(ASPM):c.83C>G (p.Ala28Gly)
NM_018136.5(ASPM):c.83C>T (p.Ala28Val)
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
NM_018136.5(ASPM):c.8566T>A (p.Phe2856Ile)
NM_018136.5(ASPM):c.8696C>T (p.Ala2899Val)
NM_018136.5(ASPM):c.8764G>A (p.Gly2922Arg)
NM_018136.5(ASPM):c.8784G>C (p.Lys2928Asn)
NM_018136.5(ASPM):c.8819A>G (p.Gln2940Arg)
NM_018136.5(ASPM):c.8899T>C (p.Cys2967Arg)
NM_018136.5(ASPM):c.8988-1G>C rs1553326645
NM_018136.5(ASPM):c.9041T>C (p.Ile3014Thr)
NM_018136.5(ASPM):c.9046C>T (p.Pro3016Ser)
NM_018136.5(ASPM):c.9092G>A (p.Arg3031Gln)
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.968A>G (p.Asn323Ser)
NM_018136.5(ASPM):c.977A>C (p.His326Pro)
NM_018136.5(ASPM):c.9832G>A (p.Val3278Ile)
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822

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