ClinVar Miner

List of variants studied for Alstrom syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)

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