ClinVar Miner

List of variants in gene CRYM studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001376256.1(CRYM):c.325-12T>C rs226045 0.27780
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=) rs34045013 0.01064
NM_001376256.1(CRYM):c.524A>T (p.Glu175Val) rs141936944 0.00150
NM_001376256.1(CRYM):c.943T>C (p.Ter315Gln) rs140779001 0.00021
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_001376256.1(CRYM):c.251G>A (p.Gly84Asp)
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
NM_001376256.1(CRYM):c.864C>G (p.Thr288=) rs14122
NM_001376256.1(CRYM):c.941A>C (p.Lys314Thr) rs104894512
NM_001376256.1(CRYM):c.945A>T (p.Ter315Tyr) rs104894509

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