ClinVar Miner

List of variants studied for lung disorder by Institute of Human Genetics, Cologne University

Included ClinVar conditions (132):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) rs1559967708
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) rs754332943
NM_000388.4(CASR):c.2637C>G (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.516A>T (p.Arg172Ser) rs1114167368
NM_001204.7(BMPR2):c.2094del (p.Pro698_Leu699insTer) rs2105711729
NM_001204.7(BMPR2):c.530-2A>G rs2106003122
NM_002067.5(GNA11):c.95A>G (p.Asp32Gly) rs200234790
NM_015909.4(NBAS):c.893del (p.Lys298fs) rs2148636494

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