ClinVar Miner

List of variants studied for uterine disorder by National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001127255.2(NLRP7):c.2811-23A>G rs269933 0.54964
NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=) rs269951 0.54828
NM_001127255.2(NLRP7):c.-39-16C>T rs775886 0.38318
NM_001127255.2(NLRP7):c.2811-25G>C rs775870 0.06249
NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=) rs73055288 0.03784
NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=) rs61746780 0.02585
NC_000019.10:g.54947788G>A rs9941465
NM_001017361.3(KHDC3L):c.602C>G (p.Ala201Gly) rs561930
NM_001127255.2(NLRP7):c.1224_1232delGCGGGGCGCinsT (p.Arg409Alafs) rs2069116238
NM_001127255.2(NLRP7):c.2642+17TG[6] rs112477133
NM_001127255.2(NLRP7):c.2695C>T (p.Leu899Phe) rs2068636165
NM_001127255.2(NLRP7):c.2982-28del rs34438464

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