ClinVar Miner

List of variants in gene SALL1 studied for Inborn genetic diseases

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr) rs144782810 0.00018
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) rs529030284 0.00006
NM_002968.3(SALL1):c.649G>A (p.Gly217Ser) rs140165636 0.00006
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.986C>T (p.Thr329Ile) rs886043094 0.00004
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) rs767612617 0.00003
NM_002968.3(SALL1):c.3947A>G (p.Glu1316Gly) rs375212546 0.00002
NM_002968.3(SALL1):c.2069A>G (p.Lys690Arg) rs752288194 0.00001
NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu) rs150467434
NM_002968.3(SALL1):c.1027A>G (p.Ile343Val)
NM_002968.3(SALL1):c.1217T>C (p.Leu406Ser)
NM_002968.3(SALL1):c.1257G>T (p.Leu419Phe)
NM_002968.3(SALL1):c.1762C>T (p.Pro588Ser) rs771371721
NM_002968.3(SALL1):c.1771G>A (p.Val591Ile)
NM_002968.3(SALL1):c.1807A>G (p.Arg603Gly)
NM_002968.3(SALL1):c.1895A>G (p.Asn632Ser)
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
NM_002968.3(SALL1):c.2170C>T (p.His724Tyr)
NM_002968.3(SALL1):c.2186C>A (p.Thr729Asn)
NM_002968.3(SALL1):c.2273C>A (p.Ala758Asp)
NM_002968.3(SALL1):c.2360T>C (p.Met787Thr)
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)
NM_002968.3(SALL1):c.2627G>A (p.Gly876Asp)
NM_002968.3(SALL1):c.2633C>A (p.Ala878Glu)
NM_002968.3(SALL1):c.2873A>G (p.Asn958Ser)
NM_002968.3(SALL1):c.2923A>G (p.Ser975Gly)
NM_002968.3(SALL1):c.2941A>G (p.Ile981Val)
NM_002968.3(SALL1):c.2968T>C (p.Phe990Leu)
NM_002968.3(SALL1):c.3005C>T (p.Ala1002Val)
NM_002968.3(SALL1):c.3239C>T (p.Ser1080Leu) rs144225643
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3338T>C (p.Leu1113Pro)
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.3(SALL1):c.3658G>A (p.Asp1220Asn)
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
NM_002968.3(SALL1):c.368A>G (p.Glu123Gly)
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)
NM_002968.3(SALL1):c.3737C>T (p.Ala1246Val)
NM_002968.3(SALL1):c.3781C>T (p.Pro1261Ser)
NM_002968.3(SALL1):c.3832C>G (p.Leu1278Val)
NM_002968.3(SALL1):c.3868C>T (p.Pro1290Ser)
NM_002968.3(SALL1):c.3875C>A (p.Ala1292Asp)
NM_002968.3(SALL1):c.406G>A (p.Gly136Ser)
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)
NM_002968.3(SALL1):c.494C>T (p.Ser165Phe) rs773094147
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
NM_002968.3(SALL1):c.560A>C (p.Asn187Thr)
NM_002968.3(SALL1):c.787G>T (p.Asp263Tyr)
NM_002968.3(SALL1):c.839A>G (p.Asn280Ser)
NM_002968.3(SALL1):c.974G>T (p.Ser325Ile)

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