ClinVar Miner

List of variants studied for Alstrom syndrome by New York Genome Center

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00008
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00007
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala) rs189851617 0.00006
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met) rs767799669
NM_001378454.1(ALMS1):c.10384+1632G>A
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr) rs1674969661
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser)
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)

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