ClinVar Miner

List of variants reported as pathogenic by Endocrinology Clinic, Seth G.S. Medical College

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) rs369176613 0.00003
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.31008681G>T rs1562606449
NC_000007.14:g.62535490A>G rs483352872
NM_000216.4(ANOS1):c.1449+2del rs397518425
NM_000216.4(ANOS1):c.1A>G (p.Met1Val) rs606231409
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000306.4(POU1F1):c.665+1G>T rs515726221
NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) rs606231406
NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) rs515726220
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) rs515726219
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp) rs515726224
NM_023110.3(FGFR1):c.2084C>T (p.Thr695Ile) rs515726225
NM_023110.3(FGFR1):c.790A>C (p.Asn264His) rs515726223

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