ClinVar Miner

List of variants in gene combination GH-LCR, GH1 reported by OMIM

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000515.5(GH1):c.172-2A>T rs863223309
NM_000515.5(GH1):c.172G>A (p.Glu58Lys) rs2144739391
NM_000515.5(GH1):c.173A>C (p.Glu58Ala) rs2144739380
NM_000515.5(GH1):c.176A>G (p.Glu59Gly) rs2144739370
NM_000515.5(GH1):c.236G>C (p.Cys79Ser) rs137853222
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.291+1G>C rs71640277
NM_000515.5(GH1):c.291+28G>A rs863223306
NM_000515.5(GH1):c.291+29_291+46del rs2144738731
NM_000515.5(GH1):c.291+2T>C rs863223310
NM_000515.5(GH1):c.291+5G>A rs863223307
NM_000515.5(GH1):c.291+6T>C rs797044450
NM_000515.5(GH1):c.292-37_292-16del
NM_000515.5(GH1):c.307C>T (p.Arg103Cys) rs137853220
NM_000515.5(GH1):c.413A>G (p.Asp138Gly) rs137853221
NM_000515.5(GH1):c.456+1G>C rs797044449
NM_000515.5(GH1):c.456+1G>T rs797044449
NM_000515.5(GH1):c.456+5G>C rs863223308
NM_000515.5(GH1):c.52del (p.Leu18fs)
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219

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