ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, musculocontractural type 2 by Invitae

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg) rs149649831 0.00052
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) rs142885560 0.00024
NM_013352.4(DSE):c.2129C>T (p.Ala710Val) rs533772643 0.00021
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) rs371043332 0.00011
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) rs146336077 0.00011
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978 0.00009
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser) rs376771433 0.00009
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) rs147451395 0.00009
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
NM_013352.4(DSE):c.208C>T (p.Arg70Cys) rs375337613 0.00006
NM_013352.4(DSE):c.2752A>G (p.Met918Val) rs780791978 0.00006
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln) rs367959320 0.00005
NM_013352.4(DSE):c.215C>T (p.Thr72Met) rs201564300 0.00004
NM_013352.4(DSE):c.2242C>T (p.His748Tyr) rs770096528 0.00004
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr) rs140764351 0.00004
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly) rs377694163 0.00004
NM_013352.4(DSE):c.95T>C (p.Met32Thr) rs140765634 0.00004
NM_013352.4(DSE):c.121G>A (p.Asp41Asn) rs754763310 0.00002
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser) rs775032838 0.00001
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) rs767730463 0.00001
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys) rs746187739 0.00001
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe) rs1213902929 0.00001
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu) rs762084403 0.00001
NM_013352.4(DSE):c.17G>A (p.Arg6Gln) rs758271302 0.00001
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp) rs763787753 0.00001
NM_013352.4(DSE):c.2054T>C (p.Val685Ala) rs749911499 0.00001
NM_013352.4(DSE):c.2147G>A (p.Arg716His) rs549153887 0.00001
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) rs779169990 0.00001
NM_013352.4(DSE):c.2221A>G (p.Ile741Val) rs780336360 0.00001
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys) rs752624508 0.00001
NM_013352.4(DSE):c.2386A>G (p.Ile796Val) rs774012350 0.00001
NM_013352.4(DSE):c.404C>T (p.Ala135Val) rs370430595 0.00001
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) rs1057524129 0.00001
NM_013352.4(DSE):c.101C>G (p.Pro34Arg) rs35548455
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
NM_013352.4(DSE):c.110A>G (p.Asn37Ser) rs371802983
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr) rs2115093579
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser) rs1423707879
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn) rs2115094114
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu) rs757356537
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs) rs2115094515
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn) rs2115094625
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu) rs2115094990
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs) rs2115095071
NM_013352.4(DSE):c.1686T>A (p.His562Gln) rs2115095121
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
NM_013352.4(DSE):c.171G>T (p.Gln57His)
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
NM_013352.4(DSE):c.182C>A (p.Ala61Asp) rs2114995025
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe) rs1784155007
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser) rs762120249
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys) rs762120249
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter) rs1784181791
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521
NM_013352.4(DSE):c.2465T>C (p.Val822Ala) rs778282572
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly) rs2115099078
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) rs113277624
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp) rs113277624
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
NM_013352.4(DSE):c.277G>A (p.Asp93Asn) rs2114995361
NM_013352.4(DSE):c.2799del (p.Arg933fs) rs1339083714
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
NM_013352.4(DSE):c.325T>G (p.Leu109Val) rs1781471216
NM_013352.4(DSE):c.331A>G (p.Met111Val) rs866132678
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
NM_013352.4(DSE):c.355A>C (p.Asn119His) rs1583172956
NM_013352.4(DSE):c.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
NM_013352.4(DSE):c.480del (p.Ala161fs)
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr) rs76186865
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
NM_013352.4(DSE):c.611A>G (p.Asn204Ser) rs2115065124
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
NM_013352.4(DSE):c.718A>G (p.Met240Val)
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
NM_013352.4(DSE):c.8C>A (p.Thr3Asn) rs1164317142

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