ClinVar Miner

List of variants reported as likely benign for Autosomal dominant nonsyndromic hearing loss 4A by Illumina Laboratory Services, Illumina

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.*427T>C rs190088995 0.00299
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_001145809.2(MYH14):c.*301C>T rs529409417 0.00218
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=) rs147447646 0.00218
NM_001145809.2(MYH14):c.*368C>G rs74582015 0.00192
NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn) rs202225655 0.00134
NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met) rs112716976 0.00107
NM_001145809.2(MYH14):c.36G>A (p.Lys12=) rs372741317 0.00100
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln) rs199696801 0.00052
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001145809.2(MYH14):c.4138-13C>T rs183327883 0.00034
NM_001145809.2(MYH14):c.*86G>A rs772673014 0.00029
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys) rs187789045 0.00029
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001145809.2(MYH14):c.5850G>A (p.Glu1950=) rs368708096 0.00025
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) rs202242879 0.00024
NM_001145809.2(MYH14):c.2645C>T (p.Ala882Val) rs202065396 0.00021
NM_001145809.2(MYH14):c.*81A>G rs772326631 0.00013
NM_001145809.2(MYH14):c.2544C>T (p.Ile848=) rs761170226 0.00009
NM_001145809.2(MYH14):c.5447G>A (p.Arg1816His) rs201923258 0.00009
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=) rs190941610 0.00006
NM_001145809.2(MYH14):c.3172-12T>C rs374486787 0.00006
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171 0.00006
NM_001145809.2(MYH14):c.263G>A (p.Arg88Gln) rs185910660 0.00004
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys) rs140157424 0.00003
NM_001145809.2(MYH14):c.3303A>G (p.Leu1101=) rs543799021 0.00001
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001145809.2(MYH14):c.5384G>T (p.Arg1795Leu) rs567922009

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