List of variants reported as likely pathogenic for Alstrom syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)	rs751804613	0.00004
NM_001378454.1(ALMS1):c.11669-2A>G	rs952110960	0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)	rs758195453	0.00003
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)	rs1558649531	0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)	rs759024519	0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)	rs749339938	0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)	rs771994237	0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)	rs761713440	0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)	rs989080548	0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)	rs956247442	0.00001
NM_001378454.1(ALMS1):c.10079-1G>C	rs1361885101
NM_001378454.1(ALMS1):c.10384+1G>A	rs766366221
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	rs1473611414
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)	rs932538480
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)	rs1247974278
NM_001378454.1(ALMS1):c.12299-1G>A	rs1313101326
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)	rs1347176614
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)	rs780843883
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)	rs765764128
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)	rs2104060044
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)	rs1558648759
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)	rs868776324
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)	rs2103780557
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)	rs1208636696
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)	rs1553404020
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)	rs1553404377
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)	rs1553409617
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs)	rs1182262187
NM_001378454.1(ALMS1):c.9782-1G>A	rs1673992163
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)	rs754690894

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