ClinVar Miner

List of variants in gene GCDH reported as benign

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.506-121T>C rs2238641 0.33953
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000159.4(GCDH):c.505+268C>T rs73505327 0.05464
NM_000159.4(GCDH):c.505+32G>A rs73505326 0.05459
NM_000159.4(GCDH):c.334+161_334+162dup rs58273148 0.05441
NM_000159.4(GCDH):c.334+121C>A rs58971437 0.05440
NM_000159.4(GCDH):c.1083-106T>C rs114299840 0.02933
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397 0.00170
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943 0.00131
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539 0.00023
NM_000159.4(GCDH):c.735C>T (p.Leu245=) rs372678445 0.00015
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser) rs539505767 0.00009
NM_000159.4(GCDH):c.801C>T (p.Asp267=) rs141293881 0.00008
GRCh37/hg19 19p13.2(chr19:13006740-13007077)x3
NM_000159.4(GCDH):c.272-12G>A
NM_000159.4(GCDH):c.506-119G>A rs12151303
NM_000159.4(GCDH):c.506-194del rs56251518
NM_000159.4(GCDH):c.506-195_506-194del rs56251518
NM_000159.4(GCDH):c.999G>A (p.Gln333=) rs878853156

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