ClinVar Miner

List of variants reported as likely pathogenic by Molecular Diagnosis Center for Deafness

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) rs747175448 0.00003
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) rs371717411 0.00001
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) rs773476384 0.00001
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro) rs1760430376
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp) rs1760431636
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) rs2142428987
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) rs2142430892
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) rs2142243946
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) rs2142335605
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) rs2142355107
NM_016239.4(MYO15A):c.6510-1G>T rs2142360420
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
NM_016239.4(MYO15A):c.6764+1G>T rs2046521710
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) rs2142370684
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) rs2142381103
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) rs2142381306
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) rs2142382400
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) rs2142388348
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) rs2142388547
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) rs774312110

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