ClinVar Miner

List of variants in gene MYBPC1 reported as uncertain significance for not provided

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002465.4(MYBPC1):c.1487T>C (p.Val496Ala) rs752801065 0.00006
NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr) rs761232017 0.00003
NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln) rs778424803 0.00002
NM_002465.4(MYBPC1):c.2436G>T (p.Lys812Asn) rs1897767178 0.00001
NM_002465.4(MYBPC1):c.*20-2A>G
NM_002465.4(MYBPC1):c.1414G>C (p.Gly472Arg) rs2136293199
NM_002465.4(MYBPC1):c.143G>T (p.Gly48Val)
NM_002465.4(MYBPC1):c.154C>T (p.Arg52Trp)
NM_002465.4(MYBPC1):c.155G>A (p.Arg52Gln)
NM_002465.4(MYBPC1):c.1706G>A (p.Arg569His)
NM_002465.4(MYBPC1):c.1820del (p.Ser607fs)
NM_002465.4(MYBPC1):c.1915G>A (p.Val639Ile)
NM_002465.4(MYBPC1):c.2010C>A (p.Tyr670Ter) rs77045393
NM_002465.4(MYBPC1):c.2018G>T (p.Gly673Val) rs1896501574
NM_002465.4(MYBPC1):c.2113G>A (p.Glu705Lys)
NM_002465.4(MYBPC1):c.217G>A (p.Ala73Thr)
NM_002465.4(MYBPC1):c.2279C>T (p.Thr760Met)
NM_002465.4(MYBPC1):c.2357-979C>A
NM_002465.4(MYBPC1):c.2675T>G (p.Ile892Arg)
NM_002465.4(MYBPC1):c.2714T>C (p.Ile905Thr)
NM_002465.4(MYBPC1):c.272G>A (p.Gly91Glu)
NM_002465.4(MYBPC1):c.2788T>A (p.Ser930Thr)
NM_002465.4(MYBPC1):c.2792T>C (p.Ile931Thr)
NM_002465.4(MYBPC1):c.2848G>A (p.Val950Ile)
NM_002465.4(MYBPC1):c.2908A>G (p.Ile970Val)
NM_002465.4(MYBPC1):c.2983A>C (p.Thr995Pro) rs2136798364
NM_002465.4(MYBPC1):c.3433+5G>A
NM_002465.4(MYBPC1):c.3514T>G (p.Ter1172Gly)
NM_002465.4(MYBPC1):c.377delinsGG (p.Asp126fs)
NM_002465.4(MYBPC1):c.399G>T (p.Lys133Asn)
NM_002465.4(MYBPC1):c.439G>A (p.Val147Met)
NM_002465.4(MYBPC1):c.476A>G (p.Asp159Gly) rs1890013215
NM_002465.4(MYBPC1):c.59A>C (p.Glu20Ala)
NM_002465.4(MYBPC1):c.611G>C (p.Gly204Ala)
NM_002465.4(MYBPC1):c.665+8C>T rs199628742
NM_002465.4(MYBPC1):c.666-6G>A
NM_002465.4(MYBPC1):c.787C>T (p.Leu263Phe)
NM_002465.4(MYBPC1):c.831_832delinsCC (p.Ala278Pro)

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