ClinVar Miner

List of variants in gene ALMS1 reported by Blueprint Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val) rs767343226 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=) rs768057574 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_001378454.1(ALMS1):c.1008_1009del (p.Cys336_Asp337delinsTer) rs1205704532
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.1135A>G (p.Asn379Asp) rs1671347836
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.4498_4499del (p.Leu1500fs) rs1671925979
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter) rs774594040
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter) rs1315351235
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8811T>G (p.Tyr2937Ter) rs541559170
NM_001378454.1(ALMS1):c.9084T>A (p.Cys3028Ter) rs1672973685

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