ClinVar Miner

List of variants in gene combination NCR1, NLRP7 reported as uncertain significance for complete hydatidiform mole

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_206828.4(NLRP7):c.*5C>T rs115724298 0.00605
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) rs104895526 0.00101
NM_206828.4(NLRP7):c.*44G>A rs201167539 0.00032
NM_001127255.2(NLRP7):c.2788A>T (p.Asn930Tyr) rs201379032 0.00027
NM_001127255.2(NLRP7):c.3083C>T (p.Thr1028Met) rs144955489 0.00022
NM_206828.4(NLRP7):c.*20C>T rs184844567 0.00014
NM_001127255.2(NLRP7):c.2750G>A (p.Arg917His) rs371741023 0.00011
NM_001127255.2(NLRP7):c.2420T>G (p.Met807Arg) rs371671539 0.00008
NM_001127255.2(NLRP7):c.2154C>T (p.Thr718=) rs372489727 0.00007
NM_001127255.2(NLRP7):c.2226C>T (p.Ile742=) rs571211521 0.00004
NM_001127255.2(NLRP7):c.3031G>C (p.Val1011Leu) rs540923289 0.00003
NM_001127255.2(NLRP7):c.3076G>A (p.Gly1026Arg) rs749456317 0.00003
NM_001127255.2(NLRP7):c.2130-2A>G rs764734665 0.00002
NM_001127255.2(NLRP7):c.2361C>T (p.Ala787=) rs773367585 0.00001
NM_001127255.2(NLRP7):c.2373G>A (p.Leu791=) rs768473188 0.00001
NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro) rs2068817265 0.00001
NM_001127255.2(NLRP7):c.3068A>G (p.Asn1023Ser) rs1443910848 0.00001
NM_206828.4(NLRP7):c.*183G>A rs886054631 0.00001
NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg)
NM_001127255.2(NLRP7):c.2204A>G (p.His735Arg) rs2068925515
NM_001127255.2(NLRP7):c.2250G>C (p.Leu750=) rs1038422379
NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His) rs200965650
NM_001127255.2(NLRP7):c.2504G>T (p.Cys835Phe) rs2068771944
NM_001127255.2(NLRP7):c.2548C>T (p.His850Tyr) rs886054632

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