ClinVar Miner

List of variants in gene ASPM reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 165
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
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.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
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.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.9052A>G (p.Lys3018Glu) rs753961004 0.00007
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.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.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.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.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.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.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.4317G>A (p.Met1439Ile) rs1657362655
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.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.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.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.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.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.685A>G (p.Asn229Asp)
NM_018136.5(ASPM):c.700G>A (p.Ala234Thr)
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.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.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.8003C>T (p.Ala2668Val)
NM_018136.5(ASPM):c.8072C>T (p.Ala2691Val)
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.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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.