List of variants reported as pathogenic for Hydatidiform mole, recurrent, 1

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)	rs104895503	0.00048
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp)	rs104895506	0.00026
NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val)	rs104895512	0.00009
NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs)	rs104895547	0.00007
NM_001127255.2(NLRP7):c.2471+1G>A	rs104895505	0.00005
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg)	rs104895548	0.00003
NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln)	rs104895502	0.00003
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter)	rs104895530	0.00001
NM_001127255.2(NLRP7):c.2161C>T (p.Arg721Trp)	rs104895525	0.00001
NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs)	rs2069070395
NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser)	rs104895549
NM_001127255.2(NLRP7):c.2030delT (p.Leu677Profs)	rs104895554
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro)	rs104895502
NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs)	rs104895553
NM_001127255.2(NLRP7):c.352+1G>A	rs104895504

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