ClinVar Miner

List of variants in gene MET reported by Sema4, Sema4

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000245.4(MET):c.3522T>C (p.His1174=) rs146651797 0.00243
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_000245.4(MET):c.2662C>T (p.His888Tyr) rs115574135 0.00166
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_000245.4(MET):c.2584-9T>C rs74994656 0.00119
NM_000245.4(MET):c.3549C>T (p.Gly1183=) rs371165052 0.00074
NM_000245.4(MET):c.798G>A (p.Arg266=) rs185301166 0.00073
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000245.4(MET):c.103A>T (p.Met35Leu) rs375353223 0.00041
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835 0.00039
NM_000245.4(MET):c.3810C>T (p.Gly1270=) rs200865810 0.00039
NM_000245.4(MET):c.2198C>T (p.Thr733Ile) rs201271860 0.00029
NM_000245.4(MET):c.1191C>T (p.Cys397=) rs35763409 0.00028
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438 0.00021
NM_000245.4(MET):c.665C>T (p.Thr222Met) rs200776610 0.00019
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_000245.4(MET):c.3798+5T>C rs368150874 0.00012
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00011
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.1863-12T>G rs35189619 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.1989G>A (p.Ser663=) rs201180585 0.00007
NM_000245.4(MET):c.345C>T (p.Asn115=) rs774038166 0.00007
NM_000245.4(MET):c.3168T>C (p.Ser1056=) rs376069508 0.00006
NM_000245.4(MET):c.3477C>T (p.Tyr1159=) rs372238373 0.00006
NM_000245.4(MET):c.4134G>A (p.Glu1378=) rs879254328 0.00006
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.1062C>T (p.Ala354=) rs755166920 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1528-13C>A rs751613983 0.00004
NM_000245.4(MET):c.1992G>A (p.Pro664=) rs373842614 0.00004
NM_000245.4(MET):c.2103-4T>C rs753740913 0.00004
NM_000245.4(MET):c.2583+6A>G rs769647929 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.2913C>T (p.Tyr971=) rs371379572 0.00004
NM_000245.4(MET):c.1643C>T (p.Ser548Leu) rs767715328 0.00003
NM_000245.4(MET):c.1723C>A (p.Leu575Ile) rs587778445 0.00003
NM_000245.4(MET):c.2658C>T (p.His886=) rs748950533 0.00003
NM_000245.4(MET):c.4086C>T (p.Val1362=) rs753757242 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.900C>G (p.Leu300=) rs540354779 0.00003
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.2319G>A (p.Pro773=) rs141733128 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3378C>T (p.Thr1126=) rs201111132 0.00002
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln) rs752694306 0.00002
NM_000245.4(MET):c.1113C>T (p.Asn371=) rs772014416 0.00001
NM_000245.4(MET):c.1497T>C (p.Asn499=) rs199922867 0.00001
NM_000245.4(MET):c.1699A>G (p.Lys567Glu) rs769592729 0.00001
NM_000245.4(MET):c.1719A>G (p.Ala573=) rs199776656 0.00001
NM_000245.4(MET):c.2124A>G (p.Glu708=) rs769757694 0.00001
NM_000245.4(MET):c.2441C>T (p.Pro814Leu) rs781452657 0.00001
NM_000245.4(MET):c.2667T>G (p.Ser889=) rs1794770224 0.00001
NM_000245.4(MET):c.2716G>A (p.Glu906Lys) rs778115147 0.00001
NM_000245.4(MET):c.331G>A (p.Val111Ile) rs368750834 0.00001
NM_000245.4(MET):c.377A>G (p.Tyr126Cys) rs542267057 0.00001
NM_000245.4(MET):c.3864C>T (p.Asn1288=) rs768627036 0.00001
NM_000245.4(MET):c.405C>T (p.Ser135=) rs200494620 0.00001
NM_000245.4(MET):c.62G>A (p.Arg21Lys) rs964356368 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.1172G>T (p.Gly391Val) rs1584878602
NM_000245.4(MET):c.1421C>T (p.Thr474Ile) rs1554390902
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2164G>A (p.Val722Ile) rs2116931102
NM_000245.4(MET):c.2293A>G (p.Lys765Glu) rs1554395889
NM_000245.4(MET):c.2434C>G (p.Gln812Glu) rs398123568
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.274C>G (p.His92Asp) rs1375872823
NM_000245.4(MET):c.2888A>G (p.Asp963Gly) rs1554398360
NM_000245.4(MET):c.3043T>G (p.Ser1015Ala) rs539345989
NM_000245.4(MET):c.3322G>A (p.Ala1108Thr) rs2117040300
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala) rs1292389793
NM_000245.4(MET):c.468G>A (p.Ser156=) rs576502224
NM_000245.4(MET):c.640A>G (p.Ile214Val) rs786203065
NM_000245.4(MET):c.711T>C (p.Val237=) rs932492107
NM_000245.4(MET):c.724A>G (p.Arg242Gly) rs904275312
NM_000245.4(MET):c.841T>G (p.Phe281Val) rs1791504987

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