ClinVar Miner

List of variants in gene combination GCDH, LOC117125594 reported by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.-35+17A>G rs7251834 0.96336
NM_000159.4(GCDH):c.127+64G>C rs1799918 0.30906
NM_000159.4(GCDH):c.128-79G>T rs76650855 0.05164
NM_000159.4(GCDH):c.127+48T>C rs3745647 0.04947
NM_000159.4(GCDH):c.-35G>A rs545594924 0.00105
NM_000159.4(GCDH):c.127+8C>T rs371007485 0.00008
NM_000159.4(GCDH):c.-35+19C>T rs1056090401 0.00006
NM_000159.4(GCDH):c.-4G>C rs371464666 0.00004
NM_000159.4(GCDH):c.110A>G (p.Gln37Arg) rs759599442 0.00003
NM_000159.4(GCDH):c.38G>A (p.Arg13His) rs550100640 0.00003
NM_000159.4(GCDH):c.-35+3A>G rs990871155 0.00001
NM_000159.4(GCDH):c.114C>A (p.Ser38Arg) rs767535651 0.00001
NM_000159.4(GCDH):c.127+1G>A rs1473339589 0.00001
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly) rs758646992 0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs) rs1057517088 0.00001
NM_000159.4(GCDH):c.209C>A (p.Thr70Asn) rs770537412 0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081 0.00001
NM_000159.4(GCDH):c.-34-11C>A rs367715601
NM_000159.4(GCDH):c.-35+17_-35+19delinsGG rs1555748835
NM_000159.4(GCDH):c.128-82T>G rs2242517
NM_000159.4(GCDH):c.1A>G (p.Met1Val) rs1197426645
NM_000159.4(GCDH):c.215G>T (p.Arg72Leu) rs759076157
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro) rs748185335
NM_000159.4(GCDH):c.91+46G>T rs564016367
NM_000159.4(GCDH):c.91+5G>A rs952356983

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