ClinVar Miner

List of variants studied for Premature ovarian failure by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg) rs35667704 0.00655
NM_017696.3(MCM9):c.911A>G (p.Asn304Ser) rs78231991 0.00344
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_178822.5(IGSF10):c.5477G>A (p.Gly1826Asp) rs147801336 0.00017
NM_178822.5(IGSF10):c.346A>G (p.Lys116Glu) rs370577610 0.00006
NM_207421.4(PADI6):c.519G>C (p.Glu173Asp) rs375717303 0.00006
NM_001098537.3(PNPLA7):c.3683T>C (p.Ile1228Thr) rs368502649 0.00003
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
GRCh37/hg19 4q31.3(chr4:154316483-154325120)
NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly) rs145651161
NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_178822.5(IGSF10):c.7849del (p.Ala2617fs) rs1577654964

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