ClinVar Miner

List of variants in gene NLRP1 studied for respiratory papillomatosis, juvenile recurrent, congenital

Included ClinVar conditions (2):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) rs11651270 0.47015
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_033004.4(NLRP1):c.114G>C (p.Ser38=) rs884367 0.15491
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) rs72827640 0.00324
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) rs140628502 0.00117
NM_033004.4(NLRP1):c.2841G>C (p.Arg947Ser) rs143175019 0.00061
NM_033004.4(NLRP1):c.272-7C>G rs202080927 0.00038
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_033004.4(NLRP1):c.4097G>A (p.Arg1366His) rs367981968 0.00008
NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=) rs139890811 0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004
NM_033004.4(NLRP1):c.2264C>A (p.Thr755Asn) rs1597458411
NM_033004.4(NLRP1):c.2960G>A (p.Arg987Gln)
NM_033004.4(NLRP1):c.2961-3C>T rs758290019

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