ClinVar Miner

List of variants in gene combination LOC126859921, SUN1 reported as uncertain significance for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (35):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001130965.3(SUN1):c.13C>T (p.Arg5Trp) rs149483651 0.00020
NM_001130965.3(SUN1):c.23T>C (p.Met8Thr) rs373925818 0.00006
NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn) rs200505697 0.00006
NM_001130965.3(SUN1):c.5A>C (p.Asp2Ala) rs199693265 0.00002
NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile) rs777969470 0.00001
NM_001130965.3(SUN1):c.14G>A (p.Arg5Gln)
NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)
NM_001130965.3(SUN1):c.28A>G (p.Ser10Gly)
NM_001130965.3(SUN1):c.5A>G (p.Asp2Gly)
NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)
NM_001130965.3(SUN1):c.77+1G>A rs1798962063
NM_001130965.3(SUN1):c.77+1del rs1272210110
NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)

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