ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 12 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_003476.5(CSRP3):c.*629T>C rs45599440 0.06866
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_003476.5(CSRP3):c.*450T>G rs45479995 0.00318
NM_003476.4(CSRP3):c.-211C>T rs183992670 0.00265
NM_003476.4(CSRP3):c.-163A>G rs112672382 0.00254
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) rs112848043 0.00104
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NC_000011.10:g.19201999T>G rs45498797 0.00092
NM_003476.5(CSRP3):c.*245T>C rs369635973 0.00081
NM_003476.5(CSRP3):c.*638T>C rs779532194 0.00056
NM_003476.5(CSRP3):c.*415A>G rs180844111 0.00032
NM_003476.4(CSRP3):c.-158A>G rs886048100 0.00019
NM_003476.4(CSRP3):c.-157G>A rs886048099 0.00005
NM_003476.5(CSRP3):c.*575T>C rs886048093 0.00003
NM_003476.5(CSRP3):c.414+6A>G rs745491806 0.00002
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu) rs746707959 0.00001
NM_003476.5(CSRP3):c.537G>A (p.Thr179=) rs886048096 0.00001
NM_003476.5(CSRP3):c.*159C>T rs886048095
NM_003476.5(CSRP3):c.*292A>T rs1850449954
NM_003476.5(CSRP3):c.*504A>G rs886048094
NM_003476.5(CSRP3):c.*559G>A rs45606836
NM_003476.5(CSRP3):c.-8602G>A rs569978006
NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp) rs45552933
NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu) rs1850558110
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) rs746207
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) rs367827746
NM_003476.5(CSRP3):c.282-15G>C rs752833206
NM_003476.5(CSRP3):c.415-11G>T rs886048097

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