ClinVar Miner

List of variants in gene MYH6 reported as likely benign for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_002471.4(MYH6):c.3979-2A>C rs1158854454 0.00172
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_002471.4(MYH6):c.3732+13C>T rs369889994 0.00015
NM_002471.4(MYH6):c.4526-9G>C rs201785356 0.00013
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.2973C>T (p.Ile991=) rs374807345 0.00011
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=) rs374114140 0.00010
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.1141+11C>T rs373521230 0.00008
NM_002471.4(MYH6):c.800-5C>T rs727505228 0.00006
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=) rs142767538 0.00005
NM_002471.4(MYH6):c.5661+9A>G rs373908250 0.00005
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=) rs753335327 0.00003
NM_002471.4(MYH6):c.3477G>A (p.Thr1159=) rs573242724 0.00002
NM_002471.4(MYH6):c.2664C>T (p.Asp888=) rs755699724 0.00001
NM_002471.4(MYH6):c.3189G>C (p.Leu1063=) rs745729273 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.4504C>A (p.Arg1502=) rs773631723 0.00001
NM_002471.4(MYH6):c.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-3dup rs770492637
NM_002471.4(MYH6):c.3979-7_3979-4del rs745326238
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.4360-7C>T rs58949384

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