ClinVar Miner

List of variants in gene ALMS1 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00008
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859 0.00006
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala) rs777227174 0.00002
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg) rs1381524403 0.00001
NM_001378454.1(ALMS1):c.10264G>T (p.Glu3422Ter)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
NM_001378454.1(ALMS1):c.1422T>G (p.His474Gln)
NM_001378454.1(ALMS1):c.1511C>G (p.Ser504Ter)
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1987A>G (p.Thr663Ala)
NM_001378454.1(ALMS1):c.2927_2930dup (p.Ser978fs)
NM_001378454.1(ALMS1):c.3221_3222del (p.Leu1074fs)
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.36GGA[7] (p.Glu23_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3761C>G (p.Pro1254Arg)
NM_001378454.1(ALMS1):c.4139C>G (p.Ser1380Cys)
NM_001378454.1(ALMS1):c.49_50insTGG (p.Glu16_Glu17insVal)
NM_001378454.1(ALMS1):c.509_510del (p.Thr170fs)
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6976dup (p.Ser2326fs)
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8509C>G (p.Gln2837Glu)
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs) rs2103892422
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly) rs1573013147
NM_001378454.1:c.(12298+1_12299-1)_(12362+1_12363-1)del

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