ClinVar Miner

List of variants studied for Alstrom syndrome by Baylor Genetics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289 0.00007
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val) rs761831256 0.00001
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His) rs1671348747
NM_001378454.1(ALMS1):c.12247G>C (p.Asp4083His) rs1675713916
NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys)
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu) rs1046271130
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser) rs956834448
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.8183A>T (p.Asn2728Ile) rs886758563
NM_001378454.1(ALMS1):c.9700A>G (p.Asn3234Asp) rs1673641556

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