ClinVar Miner

List of variants in gene MYH3 reported as likely benign for Sheldon-hall syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=) rs139978727 0.00252
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=) rs114770362 0.00250
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.1566C>A (p.Ile522=) rs146873206 0.00236
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_002470.4(MYH3):c.2289+4A>G rs111835858 0.00218
NM_002470.4(MYH3):c.-63G>A rs141754213 0.00209
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) rs112858125 0.00205
NM_002470.4(MYH3):c.1932C>T (p.Ser644=) rs115612890 0.00194
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_002470.4(MYH3):c.2883C>A (p.Thr961=) rs144338240 0.00096
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00063
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002470.4(MYH3):c.4647+6T>G rs375163919 0.00054
NM_002470.4(MYH3):c.1521C>T (p.Ile507=) rs140685610 0.00029
NM_002470.4(MYH3):c.412G>A (p.Glu138Lys) rs191837780 0.00029
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=) rs377092561 0.00028
NM_002470.4(MYH3):c.3389G>A (p.Arg1130His) rs184919169 0.00022
NM_002470.4(MYH3):c.5797-12C>G rs374799651 0.00018
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002470.4(MYH3):c.3039T>C (p.Ala1013=) rs142131471 0.00006
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00006
NM_002470.4(MYH3):c.4941C>T (p.Val1647=) rs143855213 0.00004
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu) rs373367650
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) rs537656234

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