List of variants studied for Hecht syndrome

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		ClinVar version:

Total variants: 121

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HGVS	dbSNP	gnomAD frequency
NM_002472.3(MYH8):c.714T>C (p.Thr238=)	rs8068729	0.86257
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)	rs3744552	0.59381
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)	rs8069834	0.50046
NM_002472.3(MYH8):c.-31G>A	rs2277648	0.30852
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=)	rs33969260	0.17467
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val)	rs34693726	0.05120
NM_002472.3(MYH8):c.2016C>T (p.Phe672=)	rs12936716	0.05000
NM_002472.3(MYH8):c.*76G>C	rs3744551	0.02877
NM_002472.3(MYH8):c.1701G>A (p.Gln567=)	rs73275411	0.02065
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=)	rs138992963	0.01251
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)	rs35962914	0.00723
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)	rs141215006	0.00462
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys)	rs34953692	0.00461
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)	rs111567318	0.00446
NM_002472.3(MYH8):c.805+9C>T	rs75468422	0.00426
NM_002472.3(MYH8):c.1632T>C (p.Pro544=)	rs144596237	0.00409
NM_002472.3(MYH8):c.*72T>C	rs184845947	0.00388
NM_002472.3(MYH8):c.-93T>G	rs113848347	0.00379
NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met)	rs73977155	0.00355
NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile)	rs143876651	0.00285
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)	rs146732664	0.00220
NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn)	rs139344968	0.00209
NM_002472.3(MYH8):c.143C>T (p.Ser48Phe)	rs146669648	0.00111
NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val)	rs148625172	0.00088
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)	rs140562514	0.00085
NM_002472.3(MYH8):c.954G>C (p.Gln318His)	rs142606252	0.00081
NM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr)	rs142232788	0.00073
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)	rs142073810	0.00068
NM_002472.3(MYH8):c.2274A>G (p.Gln758=)	rs145901155	0.00065
NM_002472.3(MYH8):c.4878T>C (p.Asn1626=)	rs202123184	0.00055
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp)	rs75160168	0.00053
NM_002472.3(MYH8):c.578G>A (p.Arg193His)	rs145863180	0.00052
NM_002472.3(MYH8):c.1318C>T (p.Leu440=)	rs141899271	0.00049
NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val)	rs138607111	0.00045
NM_002472.3(MYH8):c.1416+11T>G	rs186333848	0.00032
NM_002472.3(MYH8):c.5115C>T (p.Ala1705=)	rs200890789	0.00028
NM_002472.3(MYH8):c.3340T>C (p.Leu1114=)	rs142711931	0.00026
NM_002472.3(MYH8):c.59G>A (p.Arg20Gln)	rs201580344	0.00026
NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile)	rs199851248	0.00024
NM_002472.3(MYH8):c.3320del (p.Leu1107fs)	rs751871946	0.00024
NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser)	rs138679792	0.00024
NM_002472.3(MYH8):c.277A>G (p.Met93Val)	rs144036067	0.00021
NM_002472.3(MYH8):c.2117G>A (p.Arg706His)	rs150351713	0.00020
NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln)	rs199865613	0.00018
NM_002472.3(MYH8):c.-65C>T	rs143129869	0.00016
NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg)	rs201598997	0.00016
NM_002472.3(MYH8):c.1899T>C (p.Asp633=)	rs148707844	0.00014
NM_002472.3(MYH8):c.304C>G (p.Pro102Ala)	rs149941951	0.00014
NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys)	rs757938047	0.00013
NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys)	rs151091483	0.00012
NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)	rs142137577	0.00011
NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr)	rs181695343	0.00011
NM_002472.3(MYH8):c.676G>A (p.Ala226Thr)	rs140408926	0.00011
NM_002472.3(MYH8):c.1486_1487del (p.Met496fs)	rs768299780	0.00010
NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys)	rs75477725	0.00010
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr)	rs34124921	0.00010
NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser)	rs147828853	0.00009
NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly)	rs948334773	0.00009
NM_002472.3(MYH8):c.254C>T (p.Pro85Leu)	rs375714148	0.00009
NM_002472.3(MYH8):c.3255-8G>A	rs367738995	0.00009
NM_002472.3(MYH8):c.4688G>A (p.Arg1563His)	rs544591533	0.00009
NM_002472.3(MYH8):c.675C>T (p.Ser225=)	rs146651214	0.00009
NM_002472.3(MYH8):c.846G>A (p.Ala282=)	rs577298464	0.00008
NM_002472.3(MYH8):c.4433G>A (p.Arg1478His)	rs201586936	0.00007
NM_002472.3(MYH8):c.-7C>T	rs201919885	0.00006
NM_002472.3(MYH8):c.4910G>A (p.Arg1637His)	rs886052556	0.00006
NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln)	rs376732590	0.00005
NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln)	rs748982401	0.00004
NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser)	rs747018022	0.00004
NM_002472.3(MYH8):c.501C>T (p.Phe167=)	rs772296874	0.00004
NM_002472.3(MYH8):c.5736G>C (p.Arg1912=)	rs371556070	0.00004
NM_002472.3(MYH8):c.1833G>A (p.Leu611=)	rs202061555	0.00003
NM_002472.3(MYH8):c.1973T>A (p.Leu658Ter)	rs746410520	0.00003
NM_002472.3(MYH8):c.959A>T (p.Glu320Val)	rs148448600	0.00003
NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr)	rs753001993	0.00002
NM_002472.3(MYH8):c.1432C>T (p.Gln478Ter)	rs748598841	0.00002
NM_002472.3(MYH8):c.399G>T (p.Trp133Cys)	rs765031203	0.00002
NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu)	rs765715898	0.00002
NM_002472.3(MYH8):c.-31+9T>C	rs1181947502	0.00001
NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu)	rs759976728	0.00001
NM_002472.3(MYH8):c.1147+14C>G	rs1019644932	0.00001
NM_002472.3(MYH8):c.1268T>G (p.Val423Gly)	rs747960533	0.00001
NM_002472.3(MYH8):c.1989G>A (p.Thr663=)	rs886052559	0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)	rs121434590	0.00001
NM_002472.3(MYH8):c.2439A>G (p.Ala813=)	rs1317249599	0.00001
NM_002472.3(MYH8):c.3408G>A (p.Glu1136=)	rs1031980265	0.00001
NM_002472.3(MYH8):c.3423C>T (p.Asp1141=)	rs112065797	0.00001
NM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly)	rs199962930	0.00001
NM_002472.3(MYH8):c.605C>T (p.Ala202Val)	rs886052561	0.00001
NM_002472.3(MYH8):c.797T>C (p.Ile266Thr)	rs753890411	0.00001
NM_002472.3(MYH8):c.840A>G (p.Leu280=)	rs763682269	0.00001
NM_002472.3(MYH8):c.*19A>G	rs1258001768
NM_002472.3(MYH8):c.*33G>C	rs758849889
NM_002472.3(MYH8):c.1009-4G>A	rs886052560
NM_002472.3(MYH8):c.1408del (p.Ile470fs)	rs1060499728
NM_002472.3(MYH8):c.1587+4G>A	rs368100654
NM_002472.3(MYH8):c.172G>C (p.Glu58Gln)	rs2072322757
NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn)	rs1260659117
NM_002472.3(MYH8):c.1804G>A (p.Asp602Asn)
NM_002472.3(MYH8):c.203G>T (p.Gly68Val)	rs886052562
NM_002472.3(MYH8):c.2172-4G>T
NM_002472.3(MYH8):c.2317C>T (p.Leu773=)	rs1400643420
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)	rs3744553
NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val)	rs917329592
NM_002472.3(MYH8):c.3254+8C>A	rs778017020
NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr)	rs372242216
NM_002472.3(MYH8):c.3643C>A (p.Arg1215=)	rs1403404409
NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg)	rs771309686
NM_002472.3(MYH8):c.3735+2T>A	rs1567683590
NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg)	rs2072116439
NM_002472.3(MYH8):c.3918G>A (p.Arg1306=)	rs747419064
NM_002472.3(MYH8):c.4249C>G (p.Leu1417Val)	rs886052558
NM_002472.3(MYH8):c.4692C>A (p.Ile1564=)	rs886052557
NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys)	rs145711576
NM_002472.3(MYH8):c.5025A>G (p.Ala1675=)	rs373978447
NM_002472.3(MYH8):c.5112C>A (p.Ile1704=)	rs766809648
NM_002472.3(MYH8):c.5166+14A>G	rs201762304
NM_002472.3(MYH8):c.5665G>C (p.Glu1889Gln)
NM_002472.3(MYH8):c.76C>A (p.Arg26=)	rs746955439
NM_002472.3(MYH8):c.851G>T (p.Arg284Ile)	rs1597404672
NM_002472.3(MYH8):c.902T>C (p.Ile301Thr)

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