ClinVar Miner

List of variants in gene MHRT, MYH7 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4353+20C>T rs199912646 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) rs1892274161
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro) rs587779414
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) rs1595074765
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) rs2138645345
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val) rs1555336580
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) rs587779389
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro) rs1892234748
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val) rs730880804
NM_000257.4(MYH7):c.4644+5G>C rs730880797

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