ClinVar Miner

List of variants reported as pathogenic for pregnancy disorder by OMIM

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
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.939_952dup (p.Tyr318Cysfs) rs104895547 0.00007
NM_001127255.2(NLRP7):c.2471+1G>A rs104895505 0.00005
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534 0.00003
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_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519 0.00001
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) rs121434536 0.00001
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) rs121434538 0.00001
NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val) rs606231235 0.00001
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter) rs104895530 0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro) rs1449401018 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) rs786205108
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) rs78310315
NM_000103.4(CYP19A1):c.296+1G>A rs786205109
NM_000103.4(CYP19A1):c.469del (p.Val158fs)
NM_000103.4(CYP19A1):c.629-3C>A rs786205110
NM_000103.4(CYP19A1):c.743+2T>C rs786205107
NM_000369.5(TSHR):c.548A>G (p.Lys183Arg) rs121908879
NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu) rs41511344
NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs) rs606231286
NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs) rs606231234
NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile) rs606231233
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
NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter) rs779402951
NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly) rs387906895
NM_006587.4(CORIN):c.949A>G (p.Lys317Glu) rs387906894
NM_152513.4(MEI1):c.1196+1G>A rs1569203272
NM_152513.4(MEI1):c.2206del (p.Val736fs) rs759915989

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