ClinVar Miner

List of variants studied for Troyer syndrome by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_015087.5(SPART):c.1053T>C (p.Pro351=) rs878854993
NM_015087.5(SPART):c.1127A>G (p.Asn376Ser) rs368305530
NM_015087.5(SPART):c.1130A>T (p.Lys377Met) rs148672324
NM_015087.5(SPART):c.1155T>G (p.Arg385=) rs140222511
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652
NM_015087.5(SPART):c.1172A>T (p.Asp391Val) rs148833652
NM_015087.5(SPART):c.1227A>G (p.Pro409=) rs1555261871
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys) rs139819321
NM_015087.5(SPART):c.1416T>C (p.Ala472=) rs373274392
NM_015087.5(SPART):c.1512C>T (p.Cys504=) rs376411341
NM_015087.5(SPART):c.1513G>A (p.Val505Ile) rs778801809
NM_015087.5(SPART):c.1782G>A (p.Ala594=) rs201110879
NM_015087.5(SPART):c.1837G>A (p.Val613Met) rs574448043
NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)
NM_015087.5(SPART):c.1939G>A (p.Val647Met) rs146683642
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) rs143274967
NM_015087.5(SPART):c.360A>G (p.Lys120=) rs149730980
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698
NM_015087.5(SPART):c.560A>G (p.Tyr187Cys) rs375284717
NM_015087.5(SPART):c.627G>A (p.Pro209=) rs370385005
NM_015087.5(SPART):c.685C>T (p.Gln229Ter)
NM_015087.5(SPART):c.68C>A (p.Ala23Asp) rs753340463
NM_015087.5(SPART):c.720T>A (p.Ser240Arg) rs780452995
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669
NM_015087.5(SPART):c.798C>T (p.Pro266=) rs769573100

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