ClinVar Miner

List of variants in gene SALL1 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 0.00007
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_002968.3(SALL1):c.*1112dup rs551203456
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu) rs576713482
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842

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