ClinVar Miner

List of variants in gene ANOS1 reported as uncertain significance for Kallmann syndrome

Included ClinVar conditions (26):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303 0.00037
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu) rs1057519373 0.00005
NM_000216.4(ANOS1):c.640C>G (p.Pro214Ala) rs138050192 0.00002
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=) rs1449749900 0.00001
NM_000216.4(ANOS1):c.1826C>A (p.Ser609Tyr) rs1374828050 0.00001
NC_000023.10:g.(?_8501036)_(8700077_?)dup
NC_000023.10:g.(?_8555815)_(8700097_?)dup
NC_000023.10:g.(?_8667719)_(8700097_?)dup
NM_000216.4(ANOS1):c.1043G>A (p.Arg348Gln)
NM_000216.4(ANOS1):c.1062+5G>A rs2146807050
NM_000216.4(ANOS1):c.1112T>C (p.Val371Ala)
NM_000216.4(ANOS1):c.1210G>A (p.Glu404Lys)
NM_000216.4(ANOS1):c.1243C>A (p.Gln415Lys)
NM_000216.4(ANOS1):c.1250A>G (p.Gln417Arg)
NM_000216.4(ANOS1):c.1307A>G (p.Tyr436Cys)
NM_000216.4(ANOS1):c.130G>A (p.Val44Ile)
NM_000216.4(ANOS1):c.1311G>A (p.Gln437=) rs2146796763
NM_000216.4(ANOS1):c.1354+1del rs764687970
NM_000216.4(ANOS1):c.139G>T (p.Ala47Ser)
NM_000216.4(ANOS1):c.1516C>T (p.Arg506Trp)
NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr) rs1555904582
NM_000216.4(ANOS1):c.1598C>T (p.Pro533Leu)
NM_000216.4(ANOS1):c.1699G>C (p.Gly567Arg)
NM_000216.4(ANOS1):c.1704C>A (p.His568Gln)
NM_000216.4(ANOS1):c.1736A>G (p.Tyr579Cys)
NM_000216.4(ANOS1):c.1852G>A (p.Val618Ile)
NM_000216.4(ANOS1):c.1871T>G (p.Leu624Arg) rs1929555187
NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)
NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys) rs776867068
NM_000216.4(ANOS1):c.2039A>G (p.Tyr680Cys) rs2146784839
NM_000216.4(ANOS1):c.207G>C (p.Gln69His)
NM_000216.4(ANOS1):c.25G>A (p.Val9Ile)
NM_000216.4(ANOS1):c.318+3del rs2146846669
NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg) rs1930756318
NM_000216.4(ANOS1):c.397G>A (p.Asp133Asn)
NM_000216.4(ANOS1):c.486A>C (p.Lys162Asn)
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser) rs1930749813
NM_000216.4(ANOS1):c.520G>A (p.Val174Ile)
NM_000216.4(ANOS1):c.857-10G>A rs1428532575
NM_000216.4(ANOS1):c.874G>A (p.Ala292Thr) rs2146807313
NM_000216.4(ANOS1):c.937A>G (p.Ile313Val)
Single allele

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