ClinVar Miner

List of variants studied for Mayer-Rokitansky-Küster-Hauser syndrome type 2 by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn) rs1474031482 0.00001
NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met) rs1319791047 0.00001
GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1
NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro) rs2036549008
NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del) rs2511874364
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs) rs2512030033
NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp) rs2512030341
NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser) rs2144520227

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