ClinVar Miner

List of variants reported for Short stature due to growth hormone secretagogue receptor deficiency by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198407.2(GHSR):c.755C>T (p.Ser252Leu) rs200367696 0.00015
NM_198407.2(GHSR):c.422G>C (p.Arg141Pro) rs199698243 0.00004
NM_198407.2(GHSR):c.575dup (p.Trp193fs) rs2473557264

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