ClinVar Miner

List of variants reported as likely pathogenic for pregnancy disorder

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534 0.00003
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) rs199845027 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000103.4(CYP19A1):c.297-1G>C rs768157788 0.00002
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) rs374443634 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) rs745776920 0.00001
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg) rs752052349 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser) rs867806350 0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495 0.00001
46;XX;t(1;5)(p23;q15)dn
GRCh37/hg19 1q24.3(chr1:172050936-172181677)
GRCh37/hg19 3p26.3-26.1(chr3:73914-4356052)
NM_000103.4(CYP19A1):c.1022-2A>G
NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter)
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) rs769461019
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser)
NM_000103.4(CYP19A1):c.1263+1G>T rs2031075939
NM_000103.4(CYP19A1):c.1369C>T (p.Arg457Ter)
NM_000103.4(CYP19A1):c.145+2T>A
NM_000103.4(CYP19A1):c.316del (p.His105_Ile106insTer)
NM_000103.4(CYP19A1):c.724A>T (p.Lys242Ter)
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380
NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)
NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)
NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)
NM_000369.5(TSHR):c.1582C>A (p.Arg528Ser)
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000369.5(TSHR):c.485C>T (p.Pro162Leu)
NM_000369.5(TSHR):c.801_810del (p.Leu267fs)
NM_000369.5(TSHR):c.881+1G>T
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652
NM_001035006.5(RPL17):c.452del (p.Thr151fs)
NM_001127255.2(NLRP7):c.2177C>T (p.Ala726Val)
NM_001127255.2(NLRP7):c.2218_2224del (p.Gly740fs)
NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs) rs2068825510
NM_001127255.2(NLRP7):c.2585G>A (p.Gly862Glu)
NM_001127255.2(NLRP7):c.277+1G>A
NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_031226.3(CYP19A1):c.297del
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) rs1057518944
NM_152513.4(MEI1):c.3772G>T (p.Asp1258Tyr)

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