ClinVar Miner

List of variants in gene GPR179 reported as pathogenic by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001004334.4(GPR179):c.724C>T (p.Arg242Ter) rs767509745 0.00004
NM_001004334.4(GPR179):c.673C>T (p.Gln225Ter) rs747682469 0.00002
NM_001004334.4(GPR179):c.1429C>T (p.Arg477Ter) rs764877172 0.00001
NM_001004334.4(GPR179):c.1543C>T (p.Arg515Ter) rs980007216 0.00001
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter) rs773022324 0.00001
NM_001004334.4(GPR179):c.1000del (p.Glu334fs)
NM_001004334.4(GPR179):c.1005del (p.Ser335fs)
NM_001004334.4(GPR179):c.1250del (p.Val417fs)
NM_001004334.4(GPR179):c.1368del (p.Phe456fs) rs1435030978
NM_001004334.4(GPR179):c.166del (p.Ala56fs)
NM_001004334.4(GPR179):c.1706C>A (p.Ser569Ter)
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) rs1567725425
NM_001004334.4(GPR179):c.1818G>A (p.Trp606Ter) rs1268507778
NM_001004334.4(GPR179):c.1835_1836insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCTCCTCCTCTTCTT (p.Phe613_His614insPhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTerPhe)
NM_001004334.4(GPR179):c.278del (p.Pro93fs) rs794726685
NM_001004334.4(GPR179):c.280dup (p.Ser94fs)
NM_001004334.4(GPR179):c.357dup (p.Glu120Ter)
NM_001004334.4(GPR179):c.416del (p.Glu139fs)
NM_001004334.4(GPR179):c.416dup (p.Asp141fs)
NM_001004334.4(GPR179):c.595A>T (p.Lys199Ter)
NM_001004334.4(GPR179):c.839_842del (p.Asn280fs) rs1244415676
NM_001004334.4(GPR179):c.857del (p.Pro286fs) rs2144276592
NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001004334.4(GPR179):c.9del (p.Arg4fs)

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