ClinVar Miner

List of variants reported as benign for acro-renal-ocular syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_020436.5(SALL4):c.1113C>G (p.Val371=) rs77810153
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) rs146604877
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) rs139022152
NM_020436.5(SALL4):c.2051_2053ATG[2] (p.Asp686del) rs557068877
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) rs147195029
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) rs61737142
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259
NM_020436.5(SALL4):c.2493A>G (p.Arg831=) rs79909922
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) rs77538589
NM_020436.5(SALL4):c.408T>C (p.Asn136=) rs76870996
NM_020436.5(SALL4):c.645C>G (p.Leu215=) rs61737139

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